A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1447e212



Internal ID20149903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68454..141026hg38UCSC Ensembl
chr4:68346..134807hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3872573
hg1966462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575654, esv3575651, esv3575652, esv3575653
Samples401873BK, 401859GS, 401853WR, 400050RL, 401838EN
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv1447e212
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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